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Recent Clinical Sequencing Papers of Note: Sep 17, 2014


Prioritizing genes for X-linked diseases using population exome data.
Ge X, Kwok PY, Shieh JT.
Hum Mol Genet. 2014 Sep 12. [Epub ahead of print]

Immunodeficiency associated with a nonsense mutation of IKBKB.
Nielsen C, Jakobsen MA, Larsen MJ, Müller AC, et al.
J Clin Immunol. 2014 Sep 14. [Epub ahead of print]

Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, et al.
Nat Genet. 2014 Sep 14. [Epub ahead of print]

Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak.
Gire SK, Goba A, Andersen KG, Sealfon RS, et al.
Science. 2014 Sep 12;345(6202):1369-72.

Clinical significance of CTNNB1 mutation and wnt pathway activation in endometrioid endometrial carcinoma.
Liu Y, Patel L, Mills GB, Lu KH, et al.
J Natl Cancer Inst. 2014 Sep 10;106(9).

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M, Di Fruscio G, Mutarelli M, Torella A, et al.
Acta Neuropathol Commun. 2014 Sep 11;2(1):100.

First Japanese family with primary familial brain calcificationdue to a mutation in the PDGFB gene: an exome analysis study.
Hayashi T, Legati A, Nishikawa T, Coppola G.
Psychiatry Clin Neurosci. 2014 Sep 11. [Epub ahead of print]

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.
Reddy R, Fahiminiya S, El Zir E, Mansour A, et al.
PLoS One. 2014 Sep 11;9(9):e107326.

A gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.
Swan H, Amarouch MY, Leinonen J, Marjamaa A, et al.
Circ Cardiovasc Genet. 2014 Sep 10. [Epub ahead of print]

Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology.
Sie D, Snijders PJ, Meijer GA, Doeleman MW, et al.
Cell Oncol. 2014 Sep 11. [Epub ahead of print]

Highly accurate diagnosis of cancer in thyroid nodules with follicular neoplasm/suspicious for a follicular neoplasm cytology by ThyroSeq v2 next-generation sequencing assay.
Nikiforov YE, Carty SE, Chiosea SI, Coyne C, et al.
Cancer. 2014 Sep 10. [Epub ahead of print]

A novel splice-mutation in PLS3 causes X-linked early-onset low-turnover osteoporosis.
Laine CM, Wessman M, Toiviainen-Salo S, Kaunisto MA, et al.
J Bone Miner Res. 2014 Sep 10. [Epub ahead of print]

Serial exome analysis of disease progression in premalignant gammopathies.
Zhao S, Choi M, Heuck C, Mane S, et al.
Leukemia. 2014 Jul;28(7):1548-52.

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL, Sacconi S, Bach J, Liebe C, et al.
Orphanet J Rare Dis. 2014 Aug 1;9(1):121.

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
Roberts KG, Li Y, Payne-Turner D, Harvey RC, et al.
N Engl J Med. 2014 Sep 11;371(11):1005-1015.

Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data.
Glessner J, Bick AG, Ito K, Homsy J, et al.
Circ Res. 2014 Sep 9. [Epub ahead of print]

The landscape of kinase fusions in cancer.
Stransky N, Cerami E, Schalm S, Kim JL, Lengauer C.
Nat Commun. 2014 Sep 10;5:4846.

Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis.
Sarkar T, Bansal R, Das P.
PLoS One. 2014 Sep 9;9(9):e106811.

Systematic analysis of the association between gut flora and obesity through high-throughput sequencing and bioinformatics approaches.
Chiu CM, Huang WC, Weng SL, Tseng HC, et al.
Biomed Res Int. 2014;2014:906168.

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.
Chakraborty R, Hampton OA, Shen X, Simko S, et al.
Blood. 2014 Sep 8. [Epub ahead of print]

Next-generation RNA sequencing of archival formalin-fixed paraffin-embedded urothelial bladder cancer.
Liu Y, Noon AP, Aguiar Cabeza E, Shen J, et al.
Eur Urol. 2014 Sep 5. [Epub ahead of print]

Hidden mutations in CdLS − limitations of Sanger sequencing in molecular diagnostics.
Braunholz D, Obieglo C, Parenti I, Pozojevic J, et al.
Hum Mutat. 2014 Sep 5. [Epub ahead of print]

Vanno: a visualization-aided variant annotation tool.
Huang PJ, Lee CC, Tan BC, Yeh YM, et al.
Hum Mutat. 2014 Sep 4. [Epub ahead of print]

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
Das AS, Agamanolis DP, Cohen BH.
Pediatr Neurol. 2014 Aug 6. [Epub ahead of print]

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Haraldsdottir S, Hampel H, Tomsic J, Frankel WL, et al.
Gastroenterology. 2014 Sep 3. [Epub ahead of print]